CEP43 wt Allele

Preferred Label : CEP43 wt Allele;

NCIt synonyms : FOP; CEP43; FGFR1 Oncogene Partner Gene; FGFR1OP; Centrosomal Protein 43 wt Allele;

NCIt related terms : FGFR1OP wt Allele;

NCIt definition : Human CEP43 wild-type allele is located within 6q27 and is approximately 95 kb in length. This allele, which encodes centrosomal protein 43, plays a role in anchoring microtubules to the centrosome. A translocation t(6;8)(q27;p11) that fuses this gene and the FGFR1 gene is associated with certain myeloproliferative disorders.;

NCIt note : A t(6;8)(q27;p11) translocation, resulting in the fusion of the FGFR10P gene with the FGFR gene, has been observed in some myeloproliferative disorders. It has been suggested that expression of this fusion gene may promote hematopoietic stem cell proliferation and leukemogenesis.;

GenBank Accession Number : Y18046;

Details

Origin ID

C54460;

UMLS CUI

C1705125;

False automatic mappings
- Fibrodysplasia ossificans progressiva [ORDO Disease]
OMIM relation
- Fibroblast growth factor receptor 1 oncogene partner [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Myelodysplastic/Myeloproliferative Neoplasm [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 6: 167383227-167424477 [NCIt concept]
gene_in_chromosomal_location
- 6q27 [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cellular Migration Process [NCIt concept]
- G2 to M Transition Process [NCIt concept]
- Microtubule Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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